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91272006: Chromosome (cell structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
151226015 Chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1205304012 Chromosome (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

34 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome Is a Chromosome structure true Inferred relationship Some
Chromosome partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Chromosome pair 2 Is a True Chromosome Inferred relationship Some
Chromosome pair 3 Is a True Chromosome Inferred relationship Some
Chromosome pair 18 Is a True Chromosome Inferred relationship Some
Chromosome pair 5 Is a True Chromosome Inferred relationship Some
Chromosome pair 9 Is a True Chromosome Inferred relationship Some
Chromosome pair 11 (cell structure) Is a True Chromosome Inferred relationship Some
Chromosome pair 12 Is a True Chromosome Inferred relationship Some
Chromosome pair 20 Is a True Chromosome Inferred relationship Some
Sex chromosome Is a True Chromosome Inferred relationship Some
Chromosome pair 16 Is a True Chromosome Inferred relationship Some
Chromosome pair 21 Is a True Chromosome Inferred relationship Some
Chromosome pair 17 Is a True Chromosome Inferred relationship Some
Chromosome pair 6 Is a True Chromosome Inferred relationship Some
Chromosome pair 1 Is a True Chromosome Inferred relationship Some
Chromosome pair 13 Is a True Chromosome Inferred relationship Some
Chromosome pair 10 Is a True Chromosome Inferred relationship Some
Chromosome pair 14 Is a True Chromosome Inferred relationship Some
Chromosome pair 7 Is a True Chromosome Inferred relationship Some
Chromosome pair 15 Is a True Chromosome Inferred relationship Some
Chromosome pair 8 Is a True Chromosome Inferred relationship Some
Chromosome pair 4 (cell structure) Is a True Chromosome Inferred relationship Some
Chromosome pair 22 Is a True Chromosome Inferred relationship Some
Chromosome pair 23 Is a True Chromosome Inferred relationship Some
Chromosome pair 19 Is a True Chromosome Inferred relationship Some
Chromosome group Is a True Chromosome Inferred relationship Some
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome Inferred relationship Some 1
Centromere partie de False Chromosome Additional relationship Some
Chromatid partie de False Chromosome Additional relationship Some
Anomaly of chromosome pair Finding site False Chromosome Inferred relationship Some 1
Anomaly of chromosome pair Finding site False Chromosome Inferred relationship Some 1
Anomaly of chromosome pair Finding site True Chromosome Inferred relationship Some 1
Deletion of part of autosome Finding site True Chromosome Inferred relationship Some 1
Autosomal deletion - mosaicism Finding site True Chromosome Inferred relationship Some 1
Whole chromosome monosomy - mitotic nondisjunction mosaicism Finding site True Chromosome Inferred relationship Some 1
22q11 partial monosomy syndrome Finding site False Chromosome Inferred relationship Some 1
Monosomy 21, mosaicism Finding site True Chromosome Inferred relationship Some 1
Deletion of long arm of chromosome 18 Finding site False Chromosome Inferred relationship Some 1
Monosomy and deletion from autosome Finding site True Chromosome Inferred relationship Some 1
Deletion with complex rearrangement Finding site True Chromosome Inferred relationship Some 1
Deletion of long arm of chromosome 13 Finding site False Chromosome Inferred relationship Some 1
Whole chromosome monosomy - meiotic nondisjunction Finding site True Chromosome Inferred relationship Some 1
Deletion seen only at prometaphase Finding site True Chromosome Inferred relationship Some 1
Deletion of short arm of chromosome 18 Finding site False Chromosome Inferred relationship Some 1
Uniparental disomy (disorder) Finding site True Chromosome Inferred relationship Some 1
Complete monosomy of autosome (disorder) Finding site True Chromosome Inferred relationship Some 1
Uniparental disomy of maternal origin (disorder) Finding site True Chromosome Inferred relationship Some 1
Uniparental disomy of paternal origin (disorder) Finding site True Chromosome Inferred relationship Some 1
A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected. Finding site True Chromosome Inferred relationship Some 1
Dicentric chromosome (disorder) Finding site True Chromosome Inferred relationship Some 1
Fetal chromosomal abnormality affecting obstetrical care (disorder) Finding site True Chromosome Inferred relationship Some 1

Reference Sets

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